ClinVar Miner

List of variants studied for Tn polyagglutination syndrome

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val) rs45557031 0.02085
NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn) rs149340486 0.00482
NM_001011551.3(C1GALT1C1):c.70A>G (p.Met24Val) rs146307271 0.00039
NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser) rs755636243 0.00009
NM_001011551.3(C1GALT1C1):c.216T>C (p.Ile72=) rs775413235 0.00007
NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg) rs758199720 0.00004
NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg) rs749131756 0.00003
NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys) rs763941184 0.00002
NM_001011551.3(C1GALT1C1):c.636G>A (p.Gly212=) rs181611793 0.00002
NM_001011551.3(C1GALT1C1):c.152A>G (p.Asp51Gly) rs371463304 0.00001
NM_001011551.3(C1GALT1C1):c.317A>G (p.Lys106Arg) rs1274314052 0.00001
NM_001011551.3(C1GALT1C1):c.135A>G (p.Gln45=)
NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter) rs137853598
NM_001011551.3(C1GALT1C1):c.338T>C (p.Met113Thr)
NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile) rs587776928
NM_001011551.3(C1GALT1C1):c.430C>T (p.Arg144Cys)
NM_001011551.3(C1GALT1C1):c.440C>T (p.Thr147Met)
NM_001011551.3(C1GALT1C1):c.441G>A (p.Thr147=)
NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys) rs137853599
NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter) rs778819609
NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro) rs397514537
NM_001011551.3(C1GALT1C1):c.606T>A (p.Asn202Lys)
NM_001011551.3(C1GALT1C1):c.666G>C (p.Gln222His)
NM_001011551.3(C1GALT1C1):c.894A>G (p.Ala298=) rs2147383410

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